Cancer type-specific modulation of mitochondrial haplogroups in breast, colorectal and thyroid cancer

• Published in: BMC cancer Vol. 10; no. 1; p. 421
• Main Authors: Fang, Hezhi, Shen, Lijun, Chen, Tao, He, Jing, Ding, Zhinan, Wei, Jia, Qu, Jianchun, Chen, Guorong, Lu, Jianxin, Bai, Yidong
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 12.08.2010; BioMed Central; BMC
• Subjects: Adult; Aged; Aged, 80 and over; Asian Continental Ancestry Group - genetics; Breast cancer; Breast Neoplasms - genetics; Breast Neoplasms - pathology; Cancer; Case-Control Studies; Cohort Studies; Colorectal Neoplasms - genetics; Colorectal Neoplasms - pathology; Demographic aspects; DNA, Mitochondrial - genetics; DNA, Neoplasm - genetics; Female; Genetic aspects; Genetic Predisposition to Disease; Genomes; Haplotypes - genetics; Hospitals; Humans; Lymphatic Metastasis; Male; Metabolic disorders; Middle Aged; Mitochondria; Mitochondria - pathology; Mitochondrial DNA; Mutation; Neoplasm Staging; Phosphorylation; Physiological aspects; Polymerase Chain Reaction; Polymorphism, Single Nucleotide - genetics; Prognosis; Respiratory system; Risk Factors; Single nucleotide polymorphisms; Statistical analysis; Surgery; Survival Rate; Thyroid cancer; Thyroid Neoplasms - genetics; Thyroid Neoplasms - pathology; Young Adult; United States; China
• ISSN: 1471-2407; 1471-2407
• DOI: 10.1186/1471-2407-10-421

Mitochondrial DNA (mtDNA) haplogroups and single nucleotide polymorphisms (mtSNP) have been shown to play a role in various human conditions including aging and some neurodegenerative diseases, metabolic diseases and cancer. To investigate whether mtDNA haplogroups contribute to the occurrence of cancer in a specific Chinese population, we have carried out a comprehensive case-control study of mtDNA from large cohorts of patients with three common cancer types, namely, colorectal cancer (n = 108), thyroid cancer (n = 100) and breast cancer (n = 104), in Wenzhou, a southern Chinese city in the Zhejiang Province. We found that patients with mtDNA haplogroup M exhibited an increased risk of breast cancer occurrence [OR = 1.77; 95% CI (1.03-3.07); P = 0.040], and that this risk was even more pronounced in a sub-haplogroup of M, D5 [OR = 3.11; 95%CI (1.07-9.06); p = 0.030]. In spite of this, in patients with breast cancer, haplogroup M was decreased in the metastatic group. On the other hand, our results also showed that haplogroup D4a was associated with an increased risk of thyroid cancer [OR = 3.00; 95%CI (1.09-8.29); p = 0.028]. However, no significant correlation has been detected between any mtDNA haplogroups and colorectal cancer occurrence. Our investigation indicates that mitochondrial haplogroups could have a tissue-specific, population-specific and stage-specific role in modulating cancer development.